Abstract

There is growing evidence that inclusion of genetic information about known common susceptibility variants may enable population risk-stratification and personalized prevention for common diseases including cancer. This would require the inclusion of genetic testing as an integral part of individual risk assessment of an asymptomatic individual. Front line health professionals would be expected to interact with and assist asymptomatic individuals through the risk stratification process. In that case, additional knowledge and skills may be needed. Current guidelines and frameworks for genetic competencies of non-specialist health professionals place an emphasis on rare inherited genetic diseases. For common diseases, health professionals do use risk assessment tools but such tools currently do not assess genetic susceptibility of individuals. In this article, we compare the skills and knowledge needed by non-genetic health professionals, if risk-stratified prevention is implemented, with existing competence recommendations from the UK, USA and Europe, in order to assess the gaps in current competences. We found that health professionals would benefit from understanding the contribution of common genetic variations in disease risk, the rationale for a risk-stratified prevention pathway, and the implications of using genomic information in risk-assessment and risk management of asymptomatic individuals for common disease prevention.

Highlights

  • Genetic testing will increasingly facilitate a more personalized approach to clinical and preventive healthcare, based on a detailed understanding of underlying pathology and risk

  • In relation to professional competence, we considered the skills and knowledge that would be required at each of these stages and new aspects that would arise from the integration of genetics within the prevention program, in terms of: (a) The proposal to include genetic testing as an integral part of the risk assessment tool

  • We found that a majority of the publicly available competence frameworks in genetics for frontline health professionals cover the basic requirements for understanding the genetic basis of diseases and management of patients, principally for those with inherited genetic conditions

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Summary

Introduction

Genetic testing will increasingly facilitate a more personalized approach to clinical and preventive healthcare, based on a detailed understanding of underlying pathology and risk. Modelling studies within COGS showed that risk-stratification based on common susceptibility variants and tailored screening intervention could improve the efficiency of screening programs [2] and improve the benefit to harm ratio including reducing over-diagnosis [3]. The purpose of risk-stratification for prevention is to recommend preventive interventions for an individual according to an assigned risk stratum. More intensive interventions such as more frequent screening tests or appropriate drugs may be offered to those at higher risk, who have more potential to benefit. Those at lower risk would receive a less intense, potentially less hazardous and less onerous intervention such as a lifestyle intervention

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